Variant report

Variant	rs6445531
Chromosome Location	chr3:52717282-52717283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52715353..52718281-chr3:52718433..52721429,4	MCF-7	breast:
2	chr3:52568115..52572187-chr3:52717267..52721555,8	K562	blood:
3	chr3:52707546..52709318-chr3:52716439..52718303,2	K562	blood:
4	chr3:52713114..52715423-chr3:52715774..52718062,2	MCF-7	breast:
5	chr3:52712073..52717938-chr3:52718038..52722104,14	K562	blood:
6	chr3:52701409..52703551-chr3:52716024..52719023,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163939	Chromatin interaction
ENSG00000168273	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000168268	Chromatin interaction

Extended variants
information (count: 224 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:223)

rs_ID	r²[population]
rs1014969	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1029871	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10433615	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10510760	0.92[ASN][1000 genomes]
rs10780035	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10865973	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10865974	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933	0.91[ASN][1000 genomes]
rs11130307	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11130308	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11130310	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130311	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11130312	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130313	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130314	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130315	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130317	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130318	0.85[EUR][1000 genomes]
rs11130319	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130321	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130323	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130324	0.81[ASN][1000 genomes]
rs11130325	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11130326	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11130327	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11177	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235	0.86[ASN][1000 genomes]
rs11708075	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11709448	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11714030	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11714088	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11714419	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11714565	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11716747	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11717043	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11717836	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11718420	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11718509	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11719514	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11720159	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11720243	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11720432	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12486554	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12486847	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12487445	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12487591	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12488461	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12488527	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12493107	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12496476	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12496634	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497998	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12498066	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12629699	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12629701	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12632265	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12632381	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12635140	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13059862	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13060675	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13061253	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13061423	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13063160	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13064064	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13065019	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13065851	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13068293	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13069481	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13071584	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13074853	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13076193	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13078422	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13079063	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13081031	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13081155	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13082208	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13082960	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13083798	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13085331	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13085775	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13085895	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13086297	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13086898	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13087772	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13094778	0.82[AMR][1000 genomes]
rs13095332	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13098776	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1468638	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1561337	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17264436	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1821879	0.81[AFR][1000 genomes]
rs1866268	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028216	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2072390	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2079929	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2083180	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2109634	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2118540	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2159644	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2164884	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2164885	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230534	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2230535	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2268024	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2268025	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2268026	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2268027	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276824	0.84[ASN][1000 genomes]
rs2286800	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2289247	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289250	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2336145	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2336146	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2336148	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2336149	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2336542	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336545	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577831	0.84[ASN][1000 genomes]
rs2590838	0.83[ASN][1000 genomes]
rs2590846	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2878726	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33967311	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34017441	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34115864	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34157897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34168767	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34173654	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34215106	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34291015	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34341238	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34537256	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34610142	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34610878	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34739010	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34754793	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34757451	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34918356	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34954168	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35107891	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35211965	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35212380	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs35249778	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35315313	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35409678	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35526119	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35976524	0.94[ASN][1000 genomes]
rs3733039	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733041	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733045	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3755798	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3755806	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3774349	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3774365	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3774366	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3852066	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4130905	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4336110	0.87[EUR][1000 genomes]
rs4435633	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4687546	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4687547	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4687548	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4687549	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4687629	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4687630	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4687633	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4687636	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687637	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687638	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687639	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687644	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687648	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4687650	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62253700	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62253703	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62253733	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62255362	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62255364	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255371	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62255396	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6414569	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6414570	0.82[AMR][1000 genomes]
rs6445529	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6445534	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6445535	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6617	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67539070	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6762457	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6762813	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6768697	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6770463	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6786043	0.80[EUR][1000 genomes]
rs6786919	0.81[EUR][1000 genomes]
rs6787154	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6788887	0.82[EUR][1000 genomes]
rs6788993	0.82[EUR][1000 genomes]
rs6790330	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6796726	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68021750	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6803012	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6804145	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6805156	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6976	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7611731	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7612511	0.82[ASN][1000 genomes]
rs7614498	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7620039	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7622694	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7623199	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7624716	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7625743	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7628578	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7638162	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7642198	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7646741	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7652191	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7653028	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs767418	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8906	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9714129	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9758945	0.81[EUR][1000 genomes]
rs9879090	0.83[ASN][1000 genomes]
rs9917834	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998909	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6445531	NT5DC2	cis	Skin Sun Exposed Lower leg	GTEx
rs6445531	MUSTN1	cis	Artery Aorta	GTEx
rs6445531	GLT8D1	Cis_1M	lymphoblastoid	RTeQTL
rs6445531	PBRM1	cis	Artery Tibial	GTEx
rs6445531	PBRM1	cis	Thyroid	GTEx
rs6445531	NT5DC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:52665400-52719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:52712600-52719400	Weak transcription	Gastric	stomach
5	chr3:52713200-52719200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:52713600-52718600	Enhancers	Adipose Nuclei	Adipose
7	chr3:52713600-52719200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:52713800-52718000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:52713800-52718400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:52713800-52719200	Weak transcription	Aorta	Aorta
11	chr3:52714000-52718000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:52714200-52717600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:52714200-52717600	Weak transcription	Lung	lung
14	chr3:52714200-52718000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:52714200-52718400	Weak transcription	Colonic Mucosa	Colon
16	chr3:52714200-52718400	Weak transcription	Stomach Mucosa	stomach
17	chr3:52714200-52718600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:52714200-52718800	Weak transcription	Right Atrium	heart
19	chr3:52714200-52718800	Weak transcription	Right Ventricle	heart
20	chr3:52714200-52719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:52714200-52719200	Weak transcription	Esophagus	oesophagus
22	chr3:52714200-52719400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:52714400-52717800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr3:52714400-52718200	Weak transcription	HUVEC	blood vessel
25	chr3:52714400-52718600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:52714400-52718800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:52714600-52718200	Enhancers	NHLF	lung
28	chr3:52714600-52718600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:52714800-52717600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:52714800-52718800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:52714800-52719000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr3:52715000-52717400	Weak transcription	Primary B cells from cord blood	blood
33	chr3:52715000-52718000	Enhancers	HepG2	liver
34	chr3:52715200-52718400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:52715200-52719000	Weak transcription	Placenta	Placenta
36	chr3:52715200-52719400	Weak transcription	Spleen	Spleen
37	chr3:52715400-52717800	Genic enhancers	Dnd41	blood
38	chr3:52715400-52718600	Weak transcription	Psoas Muscle	Psoas
39	chr3:52715600-52717600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:52715600-52718000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:52715600-52718600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:52715800-52718200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:52715800-52718800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:52715800-52719000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:52716000-52717600	Weak transcription	Fetal Brain Female	brain
46	chr3:52716000-52717600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr3:52716000-52718400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr3:52716000-52718800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr3:52716200-52717600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:52716200-52717600	Weak transcription	Left Ventricle	heart

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